Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature

The British Journal of Dermatology
M O'ConnellJoost Schalkwijk

Abstract

Tenascin-X is a large extracellular matrix glycoprotein that is widely distributed within connective tissues and is associated with an autosomal recessive type of Ehlers-Danlos syndrome (EDS). Tenascin-X represents the first EDS susceptibility gene that does not code for a fibrillar collagen or collagen-processing enzyme. We describe a paediatric case of tenascin-X deficiency and review the literature.

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Citations

Aug 16, 2012·European Journal of Human Genetics : EJHG·Karin MayerBeat Steinmann
Jan 4, 2013·The Journal of Clinical Endocrinology and Metabolism·Deborah P MerkeNazli B McDonnell
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Apr 3, 2020·Organogenesis·Xia WangOu Sha
Jun 24, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Claire GreenFleur S van Dijk

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